LOCUS AY593992 9549 bp DNA linear PRI 18-APR-2004 DEFINITION Homo sapiens upstream transcription factor 1 (USF1) gene, complete cds. ACCESSION AY593992 VERSION AY593992.1 GI:46361511 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 9549) AUTHORS Rieder,M.J., Daniels,R.L., da Ponte,S.H., Hastings,N.C., Ahearn,M.O., Rajkumar,N., Yi,Q. and Nickerson,D.A. TITLE Direct Submission JOURNAL Submitted (07-APR-2004) Genome Sciences, University of Washington, 1705 NE Pacific, Seattle, WA 98195, USA COMMENT To cite this work please use: SeattleSNPs. NHLBI HL66682 Program for Genomic Applications, UW-FHCRC, Seattle, WA (URL: http://pga.gs.washington.edu). FEATURES Location/Qualifiers source 1..9549 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" repeat_region 100..364 /rpt_family="MIR" /rpt_type=dispersed variation 943 /frequency="0.01" /replace="c" variation 1115 /frequency="0.01" /replace="g" variation 1247 /frequency="0.02" /replace="a" variation 1348 /frequency="0.01" /replace="a" variation 1386 /frequency="0.01" /replace="c" variation 1638 /frequency="0.02" /replace="g" gene 1927..7613 /gene="USF1" mRNA join(1927..1952,3504..3596,3982..4031,4194..4309, 4647..4748,5018..5213,5453..5540,5992..6050,6194..6288, 6534..6662,6855..7613) /gene="USF1" /product="upstream transcription factor 1" variation 1927 /gene="USF1" /frequency="0.47" /replace="c" variation 2005 /gene="USF1" /frequency="0.36" /replace="c" misc_feature 2008..2188 /gene="USF1" /note="Region not scanned for variation" variation 2208 /gene="USF1" /frequency="0.37" /replace="a" variation 2284 /gene="USF1" /frequency="0.27" /replace="c" variation 2514 /gene="USF1" /frequency="0.01" /replace="g" repeat_region 2622..2928 /rpt_family="Alu" /rpt_type=dispersed variation 2669 /gene="USF1" /frequency="0.47" /replace="g" repeat_region 2940..3243 /rpt_family="Alu" /rpt_type=dispersed variation 2943 /gene="USF1" /frequency="0.34" /replace="t" variation 3051 /gene="USF1" /frequency="0.34" /replace="t" variation 3087 /gene="USF1" /frequency="0.01" /replace="a" variation 3342 /gene="USF1" /frequency="0.34" /replace="g" variation 3533 /gene="USF1" /frequency="0.48" /replace="a" CDS join(3589..3596,3982..4031,4194..4309,4647..4748, 5018..5213,5453..5540,5992..6050,6194..6288,6534..6662, 6855..6944) /gene="USF1" /codon_start=1 /product="upstream transcription factor 1" /protein_id="AAS89301.1" /db_xref="GI:46361512" /translation="MKGQQKTAETEEGTVQIQEGAVATGEDPTSVAIASIQSAATFPD PNVKYVFRTENGGQVMYRVIQVSEGQLDGQTEGTGAISGYPATQSMTQAVIQGAFTSD DAVDTEGTAAETHYTYFPSTAVGDGAGGTTSGSTAAVVTTQGSEALLGQATPPGTGQF FVMMSPQEVLQGGSQRSIAPRTHPYSPKSEAPRTTRDEKRRAQHNEVERRRRDKINNW IVQLSKIIPDCSMESTKSGQSKGGILSKACDYIQELRQSNHRLSEELQGLDQLQLDND VLRQQVEDLKNKNLLLRAQLRHHGLEVVIKNDSN" repeat_region 3640..3861 /rpt_family="MIR" /rpt_type=dispersed variation 3894 /gene="USF1" /frequency="0.34" /replace="g" variation 4064 /gene="USF1" /frequency="0.18" /replace="t" variation 4076 /gene="USF1" /frequency="0.01" /replace="c" variation 4140 /gene="USF1" /frequency="0.01" /replace="t" variation 4553 /gene="USF1" /frequency="0.01" /replace="t" variation 4938 /gene="USF1" /frequency="0.17" /replace="c" variation 5299 /gene="USF1" /frequency="0.18" /replace="g" variation 5337 /gene="USF1" /frequency="0.15" /replace="t" variation 5339 /gene="USF1" /frequency="0.02" /replace="a" repeat_region 5579..5884 /rpt_family="Alu" /rpt_type=dispersed variation 5634 /gene="USF1" /frequency="0.01" /replace="c" variation 5863 /gene="USF1" /frequency="0.43" /replace="a" variation 5878 /gene="USF1" /frequency="0.01" /replace="t" variation 5880 /gene="USF1" /frequency="0.18" /replace="t" variation 5892 /gene="USF1" /frequency="0.18" /replace="a" variation 6349 /gene="USF1" /frequency="0.05" /replace="t" variation 6764 /gene="USF1" /frequency="0.01" /replace="t" variation 6974 /gene="USF1" /frequency="0.04" /replace="a" variation 7131 /gene="USF1" /frequency="0.18" /replace="t" variation 7694 /frequency="0.01" /replace="t" variation 7762 /frequency="0.01" /replace="a" variation 7777 /frequency="0.01" /replace="t" variation 7805 /frequency="0.02" /replace="t" variation 7851 /frequency="0.01" /replace="t" variation 7851 /frequency="0.34" /replace="a" variation 8082 /frequency="0.34" /replace="t" variation 8119 /frequency="0.05" /replace="c" variation 8226 /frequency="0.01" /replace="t" variation 8230 /frequency="0.01" /replace="t" variation 9328 /frequency="0.18" /replace="g" variation 9331 /frequency="0.03" /replace="t" repeat_region 9413..9549 /rpt_family="MER1_type" /rpt_type=dispersed ORIGIN 1 tcttcttctt gtttgggtgc tcttcctcag ttgttgtcat ggagactagt ggccagaaac 61 tagagctagg ttcatggtgg tcaggaaata aggaagagaa acttatattt acataatgcg 121 ttcattatgt gccaggaact ggactaagta tcctgtgctc acaaaatcta tgtccttgat 181 tttatttaat ccacacaatt ctggaaggtt ggtgctagta tctccagttt atagatgagg 241 aaactaaggc tcaattaagt caaaatgttt gccaaaggtc tcagaggtaa gaagtggcag 301 agatgggttt gaaacctgga tctgcctggc ccccaagctt gaatttttcc cattatacca 361 cactactcca aatccattca gggtaggtct tgattgagaa gaatgggaat caagattcct 421 gtcacagaag gtgtgagcct ttagaacact agaagctttg gggtctttgg atgagtgact 481 gctgacgcga ataacaagga acatatccaa ttctatgcat gccccgatag gtcgtaatct 541 ctagcaggta acctttcaaa aagacgccct gcgccaagat ggcctcccaa atagcccttg 601 ttaaagatgg cgcctccgtc ggacgtccct cccttgatct cagctggatt ctcttctttc 661 ctggaatgaa aaaatgccct gccaagcact aagatattag tacaagttag tcgtctcttt 721 cccgttcttg tcgaaagtgg ccaggccttc agctacattc tccaggacac ggcttctttc 781 cggcttcaca aataacccac aaacaccaac tctcatcaag atggagtgag cggaagtggg 841 gcagttctga gtttgagttt atgggcgggg cgagagcgac acttccgccc ctcaccaaca 901 tggccgcggg ctggaagtgc gcatgagcag ctgtctatgg agatacctag gccgggagag 961 ggagaacaca gttggagaaa atcggcagct gagacggcct tggccggtga gtgtaggacc 1021 gggcagaagt ctggaaactg ggtggactgg caaggcaggg cagctttgat tttgtttccg 1081 tttttcaagt tagagaacac tgctggggag gaagcctttg ttttggggga gggggctgtg 1141 ctggttcttt atctcatacc ctgctttgtg ggccaaactc tctcccttcc ccagagcgcg 1201 agcgtcccag ccctcctgcg ctgtccagct gcgcgccgca gccgccggca ccgggcgctt 1261 gagctcccta gtccccgagg ccctttcctg cctcctccgc ggagcagctg gggcgcgggg 1321 ctaagactgc ggggctgcgg ggtcacggcg caggctcccg ggctcgcgcc tggcgggcgc 1381 tcagctccgt aagcgccttc tggttggtga gcctgcaggg agacgcctca ttctaaggca 1441 aggtctaggt gcctgacttc tttcgggagt tgattttttt tccctttgtg tccagactta 1501 gcaagggctc ttactgggcc cttctggcct gagcgtgcac accacaacgt cccatccctg 1561 tttccgtgtc accgatccct aatgcctagg aaatgcttcc ggatgtccaa ctaagatttg 1621 aataagtacc ctgaccccgt tgctgggtgt cctcagagac tgccccggct gacagctgtg 1681 gccaatagag atgcctcctg tgccgggccc tctatttcat tgccttcccc tgcagtcagc 1741 gcggcaagct tcgcagggca tttcctcttc aggtttgaag atggaaatgt aggtggtccc 1801 aaaacactag tgctacttcc ccttatcgac tgggatctcc ttgcagcgtt acttcgtctg 1861 tacggtttca ctttcagttc ctttttcaac attttcctcg gacgcggtct ttccgaggct 1921 tatccattga aaattttcct tggataggaa aggtttggag gaccttatgg gtagagaatt 1981 tccaaaaatc ttgccccttt tgtgttggga ttatcttatt gctttgtact gtgtagctgt 2041 ttctttctgg aggcatgtct gcccagctct ttgtttttcc tgccctctgg ctgggtgtca 2101 gggtcctaag gcagagcttg taggtggatt cttccccctt tgtctcttct tcagaaccct 2161 gttttttttt tttttacccc ttcttgctca ggcttagttg atttggagtt gtcatagcaa 2221 cattttagca acagtgttgt tctgcaggaa ggcttgatga ataaaataga gaatgcttga 2281 agaggatcca cttgggcttt agggtttcta acagattata taaatctgga taccccaaaa 2341 caagagtcct gtcagtagaa tggggcccaa atgccaagtc tagtctttgt ggtcagggat 2401 attcttccag tggtagtggg cttcagattt cctcttccta ggtttgaaaa cagaaatgtc 2461 ttgatggaca acatgtggct gagaaactgg aagaagcatc agtgtccatg acactgtatt 2521 ttttgatggt ggggccaata catggccctt cctgattccc atgaagctgc catcatggca 2581 ggtcataata gctttaatga tccatttaga gatgtgttgt tggctgggtg cggtggctca 2641 tgcctgtaat ccaagcactt tgggaggccg aggcaggcgg atcacctgag gtcaggagtt 2701 ccagaccagc ctggccaata tggtaaaacc ccatctctac tgaaaataca aaaattagct 2761 gggcgtggtg gtgggcacct ataatcccag ctattcagga ggctgaggca ggagaatcac 2821 ttgaacccag gagatggagg ttgtaagccg agattgtgcc actgcactcc agcctgggtg 2881 acagagcaag attctgtctc agaaaaaaaa aaaaaaaaaa gaaagaaatg tgttgtttcg 2941 gccaggtgca gtggctcaca cctgtaatcc cagcactttg ggaggctgcc gaggtggaca 3001 gatcatgctc tcaggagttc gagaccagcc gggccaacat ggtgaaaccc cgtctctact 3061 aaaaatacaa aaattagcca ggcgtggtgg tgtgcacctg taatcccagc tactccggag 3121 gctgaggcag gagaatcact tgaacctggg aggcagaggt tgcagtgagc tgagatcgcg 3181 ccactgcact ccagcctggg tgacagagag agactctgtc tcaaaaaaaa aaaaaaaaaa 3241 aaagtgttgt ttctgtcttc cagtataatt atccactctc caccaggagt tggagtgata 3301 atggagggat ggggaacact atttgtagcc ttgctttttc aatcactgta ggccagtcct 3361 caacatcagt atggtggagg ctgattgtcc cctgcagatg actgggttat tttcctggct 3421 atgtgttcat ggaacctaag ttctagaacc agagatactg ttctgtttcc taaactcatt 3481 gcaaacttca tgatttctac caggacttag cactcaggcc tgtgaatcag gagatacaaa 3541 gacctccaaa aaaggaccag ttcctcggat gtgccccctc acagagagat gaaggggtga 3601 gtgaagaaga ggtagggtct gggatgaaag atgggtggcc tggaagaatg caaaatgacc 3661 aagagcactg cctctggagt caggcagacc tggattcagg ttctactcta tcacttactg 3721 tgtgatttgg tttctctatc tataaaatgg aagtagtgct atctatctcg tggtgctgtt 3781 tttagtacta aataagatta catgtaatgt acttagctta gtgcttatgt acatagtaaa 3841 cagtaaacac tagttgttat tctaacctaa cccagcttct gttgggaatg ccaatgagtt 3901 tgcagccata tgttactggg ccagtgagct tctcattgac ttcttctcat actcttcctt 3961 ttgtcctttc accacaaaca ggcagcagaa aacagctgaa acggaagagg ggacagtgca 4021 gattcaggaa ggtgagtgct agaaacagaa ccaagactaa gaacccatca tggcctccct 4081 tccttcccca ccagaccatc tcctgtgcat cctcctcctt ccgtgacatg caaatggaac 4141 gggggtagaa aggcagttaa ctcacagact tttcctttgt tcttttaatt caggtgcagt 4201 ggctactggg gaagacccaa ccagtgtggc tattgccagc atccagtcag ctgccacctt 4261 ccctgacccc aacgtcaagt acgtcttccg aactgagaat gggggccagg taagggaggg 4321 ggccaggtgg ctgcaggtgt tatctggggt tgggattgag ggaggtaatt gaacatgtct 4381 tggggagacc tggcttggag gatgagttga aagagtggac tgttgcaggg gagggaggtg 4441 ctaatactgg agtagagact ggtgtgaggt tagatgtatg ctgaaacctc tgtgtgggga 4501 aagaagggag aatggctgaa tccatgtctc tgaaggactt tgttttgggg ccctatccaa 4561 gggaagcttt atgaggggcc ctaggattcc caacacttaa tcttttcttc tctcttcact 4621 ccctctgcct tcctctacac ttctaggtga tgtacagggt gatccaggtg tctgaggggc 4681 agctggatgg ccaaactgag ggaactggcg ccatcagtgg ctaccctgcc actcaatcca 4741 tgacccaggt acagggtatg ggctggggag gtcactagag ttctgagaag taagatgaag 4801 aagggaatca gtaggatggg ggtgaagcta ggaacagtga ggcatctaag gctgccttgt 4861 cccaaagcac taggctctcc ttttctggat gtttctctct ctctctctct ctctctccac 4921 cctacctacc accccaaggg atagaagctg cagagtggtg tagtgggaag aagtttttga 4981 ctgttaccag aatcagtttt cttgctcccc ttcccaggcg gtgatccagg gtgctttcac 5041 cagtgatgat gcagttgaca cggaggggac agctgctgag acgcactata cttacttccc 5101 cagcacggca gtgggagatg gggcaggggg taccacatcg gggagtacag ctgctgttgt 5161 tactacccag ggctcagagg cactgctggg gcaggcgacc cctcctggca ctggtgagat 5221 attgcatgag gatgctggct gaaagggcta gaataggctg tgggacatga ctggtaggca 5281 gtgagccttc actcatgact cttagtgatc attaagacct ggacaggcag tgagtccggg 5341 gctgctcttc tattagcatg ttctttttag aggaggggac cagggtcttc acctcagggc 5401 ttggtgaggt tcctacccat gtcctgacag aacctaccct gcatcttcac aggtcaattc 5461 tttgtgatga tgtcaccaca agaagtactg cagggaggaa gccagcgctc aattgcccct 5521 aggactcacc cttattcccc gtgagtgacc cttgtttctt ctcagattcc gtaagtggtt 5581 tttttttttt tttttttttt ttgagacaga gtcttgctct gtcacccagg ctggagtgca 5641 gtggcatgat ctcagctcac tgcaacctct gcttccaggg ttcaagcgtt tctcatgcct 5701 cagcctcctg agtagctgga actacagaca tgtaccacca cccctggcta atttttgtat 5761 ctttagtaga gacagggttt caccatgttg gccaggctgg tctcgaactc ctgacctcaa 5821 gtgatccgcc tgcctcggcc tcccaaagtg ctgggattac aggtgtgaga caccacaccc 5881 agctaccata agtggtccta atacctgcta aatcttgtat aattccttaa ccccaaactt 5941 caatcatgta ttttgtcttc ttactctggc caccctgggc tctgttgtca ggaagtcaga 6001 agctccccgg acgactcggg atgagaaacg cagggctcag cataatgaag gtaggtatga 6061 tctgggtgga gctagaagct gtctggtgtg atctcagcag tgatgtctga ggggaggagg 6121 gattaggtaa ttttaccctg ggacttgtgg cgagttttca ctgagtcacc ttgtcctcca 6181 ctttgcccca cagtggagcg tcgccgccga gacaagatca acaactggat cgtgcagctc 6241 tccaagataa tcccagactg ctctatggag agcaccaagt ctggccaggt catggaaaga 6301 ccctggtagt gggcaggatg cctgaattct gcctcctggt attgtttcca gaaatggtag 6361 agagaggggc acacatgaca gtagtcttat ctctccctga ggttcctgta tccctgggag 6421 atattatacc accttcctta gatgaaaatg aggtccaaag tgtgaaccta cttttggaaa 6481 gcaagctggg tatctgaaat cctagttctc attttgttga ccttatcttg cagagtaaag 6541 gtgggattct atccaaagct tgtgattata tccaggagct tcggcagagt aaccaccgct 6601 tgtctgaaga actgcaggga cttgaccaac tgcagctgga caatgacgtg cttcgacaac 6661 aggtcagact cctaccccca gtgcagccct tctcagttct gctagccact gacccagttt 6721 gacaccctct actttgttct ccatggagaa ggcttcatct tttccccctc accagtggat 6781 gtctgaatac attcaggggc ttggaagtgc cagctttact acccattccc tttactgcct 6841 ccttcccatg tcaggtggaa gatcttaaaa acaagaatct gctgcttcga gctcagttgc 6901 ggcaccacgg attagaggtc gtcatcaaga atgacagcaa ctaactatgg ggattcaggg 6961 gctttgggcc caagaactgc agatagccca ggagcaacag cctaatcccg tgcccctttc 7021 cttcactgcc ccacttctgg catgggacag ggggaagttc agaaggtgtg tccttgaact 7081 gaggccctgt gatatggcgg cctgcagtgg tgtgaaacac acaatgtgga cgtgcactga 7141 cagccttgcc cacccccacc atgcagcccc tgggcccttg tgctcctctc gcacaatgca 7201 tgtgctgtct ccatgctgga tactggacac actaaactct ggggcttgtc ctgtgcttgc 7261 ttagagtgcc cagcagaggt ttgctgacag gtgatgctct ggcttgcccc aggactctgg 7321 cacttccatt ggttcttcct ttccctggag ctgaggttta gatgtgcaac ctgtggctca 7381 ggggagcaag cttacacaag aagtgaggga aggatgttta gcagtggctg gtgcccatga 7441 agaggagatt ggccagtgag aagctgaggc ctatgcagac atctctggag ccagagagaa 7501 caacaggcag gggcccactt ggggccttcc cccttgtggg ggtcgttttt tttttttctt 7561 ttcttttttt tttttttttt tttttttttt taagataaaa ttgttcaaag ccacagttgt 7621 ctgtttttct tccttttgtg ggccacgggc tggaagggag gggcacattg ctcttcgacc 7681 agtaagggct gtgccaagtt cagggtgggg tgctgctcct gcatttatta cccggagtcc 7741 tggttcctgg gccagaccgg tgtgtcgttt ttggcccaag ctagagaatg ttaagggctt 7801 ctgcggtggg ttggtgctag aggcgccgcg aacaggtgct gcgggggcgg cgcgggaggc 7861 ggtgcccttg cttccggatc cggtctcagc tctgggaggg aacgggagat gttgcaggcg 7921 ccgagagggc gggccagggc cgcactccgg agactcgcgg ttgctacgcg caccatggct 7981 ggaggtacct gcgggggatt cctggggccg cggttctctt ggtcctctgg gttgaggcgt 8041 ggcagggagt ggggtggcgg agcgaagggg cgtggctgag gggtcttcgt gcacacccta 8101 ccgggagggg cgctgccagg tgaggggatg ccatggcggc cgtgactcct aggccccctc 8161 ttcctgaagg ctgtcgcgcc ccttcctcag cgcccacggt ctcgcttcct gaactccgtt 8221 cactcctagc ctccggacgg gcccggctct tcgacgtgcg ctctcgcgag gaggcggcag 8281 ctgggaccat cccaggggcg ctcaacatcc cgggtatagg gtggagaggg gacgcccagg 8341 tggtggaata gagaccgttc aggaggttct ttgccaatgg gacctcattt aggatggaat 8401 ggggaaggca ctgattatgg gggtcctgca ttcccgggag ccagccctca gcttccgtag 8461 gaaggactga tggggggcgg atcttggcat cggaactggc ccatccagtt tgagaagaca 8521 gcaggcggag aggagagggg cagaccagct tctcttgacc tccccaaatc tggacgcctg 8581 agggggcatc ccgccccgcc tcctcacagc ttagggagtg gcttgcattc aaaagttgtc 8641 ggtttctgtt ccttgaaatt ggggtggggg taggggatgg ttatcatatg ttgtttgggg 8701 gcccccagga cccagccctt ccaggcccag cttccgaacc tgagtgccaa attgctggct 8761 ttcccttcta ccctctccac tcctccagtg tccgagttgg agagtgctct gcagatggag 8821 ccagctgcct tccaggcttt atattctgct gagaagccaa agctggaaga tgagcatctc 8881 gttttcttct gtcagatggg caagcggggc ctccaggcca cgcagctggc ccggagtctt 8941 ggatacactg ggtacgggga ggtgtggctg ctagctggga ggtgatgggg actgcctgtc 9001 attcctgtca gtctctcacg cttctttgtc tccacagggc tcgcaactac gctggagcct 9061 atagagaatg gttggagaaa gagagttagg caggaggcag cttactgatt gccaccccct 9121 ggccccttaa tggccacctt aactaagggt gtgaacgggc tgacttggtg aattgggcaa 9181 ctccttatag tgttgtgcac acaaaagcat caaataaaga acatttaatc aaagtattgg 9241 aagcacttaa tgtgtcaggt ggactgaaaa cagttctaat ctttatctag acctcaattc 9301 agccctggat catcatttcg cagcattcat ctgcttcccc ctagcactcc ccacatgcaa 9361 cattctagca gtttcctgag aggctacaat gtacagttct tctagaatag ctgttttcag 9421 cccagaatgc acatcagaat cacctagtag gtttttttgt ttgttttatt ttttaattca 9481 gaatatggag ggtggagcct gagcattagt ggctttatgg gcccctgggg tgattctcat 9541 atacagcca //